Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature-Reference-Cited by-同舟云学术

Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature

Published:2020-09-15 Issue: Volume:8 Page:
ISSN:2296-2360
Container-title:Frontiers in Pediatrics
language:
Short-container-title:Front. Pediatr.

Author:

Khoreva Anna,Pomerantseva Ekaterina,Belova Natalia,Povolotskaya Inna,Konovalov Fedor,Kaimonov Vladimir,Gavrina Alena,Zimin Sergey,Pershin Dmitrii,Davydova Nataliia,Burlakov Vasilii,Viktorova Ekaterina,Roppelt Anna,Kalinina Ekaterina,Novichkova Galina,Shcherbina Anna

Publisher

Frontiers Media SA

Subject

Pediatrics, Perinatology, and Child Health

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1. Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease;Molecular Genetics and Metabolism;2024-03

2. Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency;Journal of Inherited Metabolic Disease;2024-01-27

3. The Function of the NBAS Has Been Revealed: What about Its Multisystem Pathologies?;Russian Journal of Genetics;2023-04

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